DisGeNET

DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.

Source Last Updated
DisGeNET July 29, 2024
Displaying entries 49751 - 49775 of 62743 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Gene Name UniProt ID
C0684276 Hypsarrhythmia SYNJ1 8867 synaptojanin 1 O43426
C0684276 Hypsarrhythmia TECR 9524 trans-2,3-enoyl-CoA reductase Q9NZ01
C0684276 Hypsarrhythmia NDST1 3340 N-deacetylase and N-sulfotransferase 1 P52848
C0684276 Hypsarrhythmia SLC35A2 7355 solute carrier family 35 member A2 P78381
C0684276 Hypsarrhythmia PIGP 51227 phosphatidylinositol glycan anchor biosynthesis class P P57054
C0684276 Hypsarrhythmia GCK 2645 glucokinase P35557
C0684276 Hypsarrhythmia ATP6V1A 523 ATPase H+ transporting V1 subunit A P38606
C0684276 Hypsarrhythmia HMGCL 3155 3-hydroxy-3-methylglutaryl-CoA lyase P35914
C0684276 Hypsarrhythmia HSD17B4 3295 hydroxysteroid 17-beta dehydrogenase 4 P51659
C0684337 Ewings sarcoma-primitive neuroectodermal tumor (PNET) B3GAT1 27087 beta-1,3-glucuronyltransferase 1 Q9P2W7
C0684337 Ewings sarcoma-primitive neuroectodermal tumor (PNET) ABO 28 ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase P16442
C0684337 Ewings sarcoma-primitive neuroectodermal tumor (PNET) ASAH1 427 N-acylsphingosine amidohydrolase 1 Q13510
C0684337 Ewings sarcoma-primitive neuroectodermal tumor (PNET) ENO2 2026 enolase 2 P09104
C0684337 Ewings sarcoma-primitive neuroectodermal tumor (PNET) GAPDH 2597 glyceraldehyde-3-phosphate dehydrogenase P04406
C0684337 Ewings sarcoma-primitive neuroectodermal tumor (PNET) PGP 283871 phosphoglycolate phosphatase A6NDG6
C0684337 Ewings sarcoma-primitive neuroectodermal tumor (PNET) CEACAM5 1048 CEA cell adhesion molecule 5 P06731
C0684337 Ewings sarcoma-primitive neuroectodermal tumor (PNET) HMMR 3161 hyaluronan mediated motility receptor O75330
C0684337 Ewings sarcoma-primitive neuroectodermal tumor (PNET) MRC1 4360 mannose receptor C-type 1 P22897
C0684337 Ewings sarcoma-primitive neuroectodermal tumor (PNET) PIK3CD 5293 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta O00329
C0684337 Ewings sarcoma-primitive neuroectodermal tumor (PNET) PIK3CA 5290 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha P42336
C0684337 Ewings sarcoma-primitive neuroectodermal tumor (PNET) PIK3CG 5294 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma P48736
C0684337 Ewings sarcoma-primitive neuroectodermal tumor (PNET) PTEN 5728 phosphatase and tensin homolog P60484
C0684354 Benign neoplasm of sweat gland CEACAM5 1048 CEA cell adhesion molecule 5 P06731
C0684516 Benign bone neoplasm PIGA 5277 phosphatidylinositol glycan anchor biosynthesis class A P37287
C0685838 Gonadal dysgenesis XX type deafness HSD17B4 3295 hydroxysteroid 17-beta dehydrogenase 4 P51659

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